ARF1 (ADP ribosylation factor 1) - Rat Genome Database

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Gene: ARF1 (ADP ribosylation factor 1) Homo sapiens
Analyze
Symbol: ARF1
Name: ADP ribosylation factor 1
RGD ID: 1353880
HGNC Page HGNC:652
Description: Enables protein domain specific binding activity. Involved in intracellular copper ion homeostasis. Located in cell leading edge. Part of protein-containing complex. Implicated in periventricular nodular heterotopia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADP-ribosylation factor 1; PVNH8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ARF1P1   ARF1P2   ARF1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,082,708 - 228,099,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,082,708 - 228,099,212 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,270,409 - 228,286,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,336,984 - 226,353,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,577,163 - 224,593,645NCBI
Celera1201,460,593 - 201,477,145 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,785,590 - 198,802,034 (+)NCBIHuRef
CHM1_11229,542,706 - 229,559,258 (+)NCBICHM1_1
T2T-CHM13v2.01227,271,693 - 227,288,198 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,4,6-trinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
5-fluorouracil  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
caffeine  (ISO)
captan  (ISO)
carmustine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
DDT  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
dorsomorphin  (EXP)
enzyme inhibitor  (EXP)
erlotinib hydrochloride  (EXP)
ethanol  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
haloperidol  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
josamycin  (EXP)
L-methionine  (ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP)
nefazodone  (ISO)
nicotine  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paraquat  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pyrogallol  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ADP-ribosylation factor 1 protein regulates trypsinogen activation via organellar trafficking of procathepsin B protein and autophagic maturation in acute pancreatitis. Orlichenko L, etal., J Biol Chem. 2012 Jul 13;287(29):24284-93. doi: 10.1074/jbc.M111.328815. Epub 2012 May 8.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1577740   PMID:1680566   PMID:1899243   PMID:2105501   PMID:2474826   PMID:7552752   PMID:7898460   PMID:7990146   PMID:7990966   PMID:8288610   PMID:8529647   PMID:8533093  
PMID:8599108   PMID:8619474   PMID:8661066   PMID:8861955   PMID:9038142   PMID:9110174   PMID:9197239   PMID:9417041   PMID:9653114   PMID:9688545   PMID:9733781   PMID:9756891  
PMID:9819391   PMID:10022920   PMID:10102276   PMID:10198630   PMID:10212218   PMID:10318838   PMID:10402461   PMID:10589680   PMID:10623590   PMID:10720466   PMID:10747089   PMID:10747863  
PMID:10749932   PMID:10801846   PMID:10828067   PMID:10858454   PMID:10921873   PMID:11031247   PMID:11076863   PMID:11252894   PMID:11278939   PMID:11297540   PMID:11301005   PMID:11373276  
PMID:11694590   PMID:11703931   PMID:11707398   PMID:11726511   PMID:11914273   PMID:11926829   PMID:11950392   PMID:12477932   PMID:12509462   PMID:12519790   PMID:12636914   PMID:12668765  
PMID:12799371   PMID:14573774   PMID:14636574   PMID:14654833   PMID:14654841   PMID:14665636   PMID:14676827   PMID:14690595   PMID:15107860   PMID:15143060   PMID:15202998   PMID:15308674  
PMID:15336557   PMID:15469849   PMID:15489334   PMID:15489336   PMID:15581351   PMID:15679100   PMID:15680326   PMID:15684379   PMID:15781476   PMID:15793564   PMID:15814706   PMID:15876864  
PMID:15944734   PMID:16169070   PMID:16196087   PMID:16223492   PMID:16308272   PMID:16332543   PMID:16341674   PMID:16381901   PMID:16545942   PMID:16669702   PMID:16710414   PMID:16912072  
PMID:16956762   PMID:17112341   PMID:17347647   PMID:17451557   PMID:17555535   PMID:17563369   PMID:17693410   PMID:17956946   PMID:17981261   PMID:18187620   PMID:18439901   PMID:18551169  
PMID:18597672   PMID:18689681   PMID:18693248   PMID:18781797   PMID:18990689   PMID:19020038   PMID:19141284   PMID:19149577   PMID:19199708   PMID:19359423   PMID:19596022   PMID:19644450  
PMID:19738201   PMID:20089835   PMID:20164217   PMID:20214751   PMID:20228810   PMID:20360068   PMID:20457610   PMID:20458337   PMID:20529868   PMID:20861011   PMID:20881058   PMID:21034850  
PMID:21068255   PMID:21139048   PMID:21198641   PMID:21319273   PMID:21423176   PMID:21454700   PMID:21478909   PMID:21789191   PMID:21844371   PMID:21853274   PMID:21873635   PMID:21890473  
PMID:21893600   PMID:21906983   PMID:21917951   PMID:21963094   PMID:21988832   PMID:22025613   PMID:22053931   PMID:22158626   PMID:22268729   PMID:22291037   PMID:22304920   PMID:22348287  
PMID:22359663   PMID:22453919   PMID:22573888   PMID:22573891   PMID:22623428   PMID:22678362   PMID:22681889   PMID:22761998   PMID:22865885   PMID:22907437   PMID:22939629   PMID:22952844  
PMID:22962618   PMID:22971977   PMID:22981988   PMID:23000965   PMID:23255605   PMID:23415225   PMID:23533145   PMID:23707487   PMID:23783033   PMID:23804711   PMID:24196838   PMID:24407288  
PMID:24497546   PMID:24582959   PMID:24711643   PMID:24911624   PMID:24916416   PMID:25015289   PMID:25071155   PMID:25114232   PMID:25147182   PMID:25496667   PMID:25530216   PMID:25737280  
PMID:25754106   PMID:25773595   PMID:25896910   PMID:26169956   PMID:26330566   PMID:26344197   PMID:26494761   PMID:26816005   PMID:26908458   PMID:27157138   PMID:27213581   PMID:27302278  
PMID:27320911   PMID:27432908   PMID:27462432   PMID:27517156   PMID:27684187   PMID:28007915   PMID:28100775   PMID:28238095   PMID:28302793   PMID:28319085   PMID:28389568   PMID:28428254  
PMID:28515276   PMID:28533407   PMID:28631186   PMID:28718761   PMID:28830537   PMID:28969640   PMID:29128334   PMID:29229926   PMID:29467256   PMID:29507755   PMID:29735542   PMID:29743604  
PMID:30194290   PMID:30459446   PMID:30575818   PMID:30610939   PMID:30619736   PMID:30631079   PMID:30884312   PMID:30948266   PMID:30995489   PMID:31091453   PMID:31232491   PMID:31300519  
PMID:31586073   PMID:31591270   PMID:31741433   PMID:31875226   PMID:31980649   PMID:32203420   PMID:32394429   PMID:32460013   PMID:32558345   PMID:32581103   PMID:33335292   PMID:33345740  
PMID:33405949   PMID:33443570   PMID:33545068   PMID:33660365   PMID:33961781   PMID:33964470   PMID:34022220   PMID:34079125   PMID:34353862   PMID:34428256   PMID:34903051   PMID:35271311  
PMID:35545034   PMID:35831314   PMID:35844135   PMID:35896951   PMID:35973513   PMID:36215168   PMID:36244648   PMID:36305789   PMID:36396045   PMID:36610398   PMID:36963288   PMID:37185208  
PMID:37232246   PMID:37827155   PMID:37914730   PMID:38113892   PMID:38963337  


Genomics

Comparative Map Data
ARF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,082,708 - 228,099,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,082,708 - 228,099,212 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,270,409 - 228,286,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,336,984 - 226,353,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,577,163 - 224,593,645NCBI
Celera1201,460,593 - 201,477,145 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,785,590 - 198,802,034 (+)NCBIHuRef
CHM1_11229,542,706 - 229,559,258 (+)NCBICHM1_1
T2T-CHM13v2.01227,271,693 - 227,288,198 (+)NCBIT2T-CHM13v2.0
Arf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,102,237 - 59,119,042 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,102,238 - 59,119,096 (-)EnsemblGRCm39 Ensembl
GRCm381159,211,412 - 59,228,267 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,211,412 - 59,228,270 (-)EnsemblGRCm38mm10GRCm38
MGSCv371159,024,914 - 59,041,769 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361159,027,608 - 59,044,381 (-)NCBIMGSCv36mm8
Celera1163,976,432 - 63,993,249 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1137.05NCBI
Arf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,497,543 - 44,513,994 (-)NCBIGRCr8
mRatBN7.21043,997,983 - 44,014,461 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,997,986 - 44,014,434 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,692,668 - 48,708,202 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,183,026 - 48,198,560 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,686,624 - 43,702,158 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,562,700 - 45,579,214 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,563,547 - 45,579,029 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,318,170 - 45,334,673 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,516,609 - 45,532,091 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11045,529,387 - 45,545,841 (-)NCBI
Celera1043,262,080 - 43,277,562 (-)NCBICelera
Cytogenetic Map10q22NCBI
Arf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955581319,942 - 335,112 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955581319,942 - 335,112 (-)NCBIChiLan1.0ChiLan1.0
ARF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,507,248 - 21,523,835 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,445,519 - 21,462,037 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,484,803 - 203,501,395 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,695,615 - 208,712,105 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1208,695,615 - 208,712,105 (+)Ensemblpanpan1.1panPan2
ARF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114835,476 - 836,424 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14835,476 - 836,424 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14315,387 - 316,334 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014554,686 - 568,903 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14554,687 - 568,881 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114746,548 - 747,495 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014527,341 - 528,288 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014513,272 - 514,220 (-)NCBIUU_Cfam_GSD_1.0
Arf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,776,242 - 87,778,336 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936864117,510 - 119,612 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,219,667 - 51,237,639 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,219,597 - 51,237,640 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,874,559 - 53,892,570 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,628,836 - 1,644,502 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl251,628,751 - 1,644,499 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660551,510,307 - 1,525,996 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624937857,795 - 871,089 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARF1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227774916-228335196)x3 copy number gain See cases [RCV000511279] Chr1:227774916..228335196 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001658.4(ARF1):c.379A>G (p.Lys127Glu) single nucleotide variant Periventricular nodular heterotopia 8 [RCV000721170] Chr1:228097710 [GRCh38]
Chr1:228285411 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001658.4(ARF1):c.103T>C (p.Tyr35His) single nucleotide variant Periventricular nodular heterotopia 8 [RCV000721169] Chr1:228097217 [GRCh38]
Chr1:228284918 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001658.4(ARF1):c.296G>A (p.Arg99His) single nucleotide variant Periventricular nodular heterotopia 8 [RCV000721171]|not provided [RCV001579777] Chr1:228097627 [GRCh38]
Chr1:228285328 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13		 benign
NM_001658.4(ARF1):c.411C>T (p.Ala137=) single nucleotide variant ARF1-related disorder [RCV003936738]|not provided [RCV003312156] Chr1:228097878 [GRCh38]
Chr1:228285579 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789499] Chr1:228097624 [GRCh38]
Chr1:228285325 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789500] Chr1:228097624 [GRCh38]
Chr1:228285325 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile) single nucleotide variant Periventricular nodular heterotopia 8 [RCV000851181] Chr1:228097257 [GRCh38]
Chr1:228284958 [GRCh37]
Chr1:1q42.13		 likely pathogenic
GRCh37/hg19 1q42.13(chr1:227772973-228326173)x3 copy number gain not provided [RCV000847140] Chr1:227772973..228326173 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001658.4(ARF1):c.196T>A (p.Trp66Arg) single nucleotide variant not provided [RCV001311681] Chr1:228097389 [GRCh38]
Chr1:228285090 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.509T>A (p.Leu170Gln) single nucleotide variant not specified [RCV002246972] Chr1:228097976 [GRCh38]
Chr1:228285677 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.392C>T (p.Pro131Leu) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845031]|not provided [RCV003992565] Chr1:228097859 [GRCh38]
Chr1:228285560 [GRCh37]
Chr1:1q42.13		 pathogenic|uncertain significance
NM_001658.4(ARF1):c.151T>C (p.Phe51Leu) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845034] Chr1:228097344 [GRCh38]
Chr1:228285045 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845035] Chr1:228097609 [GRCh38]
Chr1:228285310 [GRCh37]
Chr1:1q42.13		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845032] Chr1:228097169 [GRCh38]
Chr1:228284870 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001658.4(ARF1):c.214del (p.Asp72fs) deletion Periventricular nodular heterotopia 8 [RCV001843892] Chr1:228097406 [GRCh38]
Chr1:228285107 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.392C>G (p.Pro131Arg) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845030] Chr1:228097859 [GRCh38]
Chr1:228285560 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001658.4(ARF1):c.103T>G (p.Tyr35Asp) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845033] Chr1:228097217 [GRCh38]
Chr1:228284918 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845036] Chr1:228097626 [GRCh38]
Chr1:228285327 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001658.4(ARF1):c.153C>A (p.Phe51Leu) single nucleotide variant Periventricular nodular heterotopia 8 [RCV001845029] Chr1:228097346 [GRCh38]
Chr1:228285047 [GRCh37]
Chr1:1q42.13		 pathogenic
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001658.4(ARF1):c.201C>G (p.Asp67Glu) single nucleotide variant Periventricular nodular heterotopia 8 [RCV002290135] Chr1:228097394 [GRCh38]
Chr1:228285095 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001658.4(ARF1):c.334_358del (p.Ala112fs) deletion not provided [RCV003328967] Chr1:228097657..228097681 [GRCh38]
Chr1:228285358..228285382 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.283A>C (p.Asn95His) single nucleotide variant not specified [RCV003404945] Chr1:228097614 [GRCh38]
Chr1:228285315 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.238C>T (p.His80Tyr) single nucleotide variant Periventricular nodular heterotopia 8 [RCV003883298] Chr1:228097431 [GRCh38]
Chr1:228285132 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1 copy number loss not specified [RCV003986606] Chr1:228215364..229747702 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001658.4(ARF1):c.300G>A (p.Val100=) single nucleotide variant ARF1-related disorder [RCV003926999] Chr1:228097631 [GRCh38]
Chr1:228285332 [GRCh37]
Chr1:1q42.13		 benign
NM_001658.4(ARF1):c.441A>G (p.Ser147=) single nucleotide variant ARF1-related disorder [RCV003924271] Chr1:228097908 [GRCh38]
Chr1:228285609 [GRCh37]
Chr1:1q42.13		 benign
NM_001658.4(ARF1):c.477C>T (p.Cys159=) single nucleotide variant ARF1-related disorder [RCV003914482] Chr1:228097944 [GRCh38]
Chr1:228285645 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001658.4(ARF1):c.509T>C (p.Leu170Pro) single nucleotide variant Periventricular nodular heterotopia 8 [RCV004577695] Chr1:228097976 [GRCh38]
Chr1:228285677 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001658.4(ARF1):c.202G>A (p.Val68Met) single nucleotide variant not provided [RCV004593518] Chr1:228097395 [GRCh38]
Chr1:228285096 [GRCh37]
Chr1:1q42.13		 pathogenic
NC_000001.10:g.(?_228194830)_(228566496_?)del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV004583928]|Spastic paraplegia [RCV004583927] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4366
Count of miRNA genes:1014
Interacting mature miRNAs:1257
Transcripts:ENST00000272102, ENST00000469235, ENST00000470558, ENST00000470670, ENST00000473546, ENST00000473949, ENST00000477451, ENST00000477821, ENST00000478336, ENST00000478424, ENST00000482962, ENST00000490705, ENST00000497165, ENST00000540651, ENST00000541182
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407080787GWAS729763_Hadolescent idiopathic scoliosis QTL GWAS729763 (human)7e-11adolescent idiopathic scoliosis1228084986228084987Human
407326129GWAS975105_Hcortical surface area measurement QTL GWAS975105 (human)5e-15cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)1228084986228084987Human
407204254GWAS853230_Hcortical surface area measurement QTL GWAS853230 (human)5e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)1228084986228084987Human
407073598GWAS722574_Hadolescent idiopathic scoliosis QTL GWAS722574 (human)2e-10adolescent idiopathic scoliosis1228084986228084987Human
406927487GWAS576463_Hneuroimaging measurement QTL GWAS576463 (human)2e-08neuroimaging measurement1228083263228083264Human

Markers in Region
D1S3252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,285,810 - 228,286,074UniSTSGRCh37
Build 361226,352,433 - 226,352,697RGDNCBI36
Celera1201,476,042 - 201,476,306RGD
Cytogenetic Map1q42UniSTS
HuRef1198,800,931 - 198,801,195UniSTS
Stanford-G3 RH Map18981.0UniSTS
GeneMap99-G3 RH Map18937.0UniSTS
RH80951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,285,732 - 228,285,922UniSTSGRCh37
Build 361226,352,355 - 226,352,545RGDNCBI36
Celera1201,475,964 - 201,476,154RGD
Cytogenetic Map1q42UniSTS
HuRef1198,800,853 - 198,801,043UniSTS
GeneMap99-GB4 RH Map1722.94UniSTS
RH64921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,285,737 - 228,285,922UniSTSGRCh37
Build 361226,352,360 - 226,352,545RGDNCBI36
Celera1201,475,969 - 201,476,154RGD
Cytogenetic Map1q42UniSTS
HuRef1198,800,858 - 198,801,043UniSTS
RH79647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,281,087 - 228,281,310UniSTSGRCh37
Build 361226,347,710 - 226,347,933RGDNCBI36
Celera1201,471,319 - 201,471,542RGD
Cytogenetic Map1q42UniSTS
HuRef1198,796,207 - 198,796,430UniSTS
GeneMap99-GB4 RH Map1720.47UniSTS
ARF1_1579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,286,128 - 228,286,916UniSTSGRCh37
Build 361226,352,751 - 226,353,539RGDNCBI36
Celera1201,476,360 - 201,477,148RGD
HuRef1198,801,249 - 198,802,037UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2246 4952 1725 2348 5 622 1949 464 2269 7288 6459 52 3715 850 1739 1615 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001024226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF052179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF337061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG421840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM353046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM844480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ935470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ949763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000272102   ⟹   ENSP00000272102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,708 - 228,099,212 (+)Ensembl
Ensembl Acc Id: ENST00000469235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,150 - 228,097,948 (+)Ensembl
Ensembl Acc Id: ENST00000470558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,789 - 228,098,188 (+)Ensembl
Ensembl Acc Id: ENST00000470670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,730 - 228,098,027 (+)Ensembl
Ensembl Acc Id: ENST00000473546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,184 - 228,097,199 (+)Ensembl
Ensembl Acc Id: ENST00000473949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,791 - 228,097,894 (+)Ensembl
Ensembl Acc Id: ENST00000477451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,085 - 228,097,655 (+)Ensembl
Ensembl Acc Id: ENST00000478336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,137 - 228,098,122 (+)Ensembl
Ensembl Acc Id: ENST00000478424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,741 - 228,098,379 (+)Ensembl
Ensembl Acc Id: ENST00000482962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,222 - 228,097,896 (+)Ensembl
Ensembl Acc Id: ENST00000490705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,090,488 - 228,097,452 (+)Ensembl
Ensembl Acc Id: ENST00000497165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,088,116 - 228,097,943 (+)Ensembl
Ensembl Acc Id: ENST00000540651   ⟹   ENSP00000442980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,082,660 - 228,099,211 (+)Ensembl
Ensembl Acc Id: ENST00000541182   ⟹   ENSP00000440005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,083,150 - 228,099,211 (+)Ensembl
RefSeq Acc Id: NM_001024226   ⟹   NP_001019397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,082,708 - 228,099,212 (+)NCBI
GRCh371228,270,361 - 228,286,913 (+)ENTREZGENE
Build 361226,336,984 - 226,353,536 (+)NCBI Archive
HuRef1198,785,590 - 198,802,034 (+)ENTREZGENE
CHM1_11229,542,706 - 229,559,258 (+)NCBI
T2T-CHM13v2.01227,271,693 - 227,288,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001024227   ⟹   NP_001019398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,083,150 - 228,099,212 (+)NCBI
GRCh371228,270,361 - 228,286,913 (+)ENTREZGENE
Build 361226,337,474 - 226,353,536 (+)NCBI Archive
HuRef1198,785,590 - 198,802,034 (+)ENTREZGENE
CHM1_11229,543,196 - 229,559,258 (+)NCBI
T2T-CHM13v2.01227,272,135 - 227,288,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001024228   ⟹   NP_001019399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,083,134 - 228,099,212 (+)NCBI
GRCh371228,270,361 - 228,286,913 (+)ENTREZGENE
Build 361226,337,474 - 226,353,536 (+)NCBI Archive
HuRef1198,785,590 - 198,802,034 (+)ENTREZGENE
CHM1_11229,543,196 - 229,559,258 (+)NCBI
T2T-CHM13v2.01227,272,119 - 227,288,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001658   ⟹   NP_001649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,082,708 - 228,099,212 (+)NCBI
GRCh371228,270,361 - 228,286,913 (+)ENTREZGENE
Build 361226,336,984 - 226,353,536 (+)NCBI Archive
HuRef1198,785,590 - 198,802,034 (+)ENTREZGENE
CHM1_11229,542,706 - 229,559,258 (+)NCBI
T2T-CHM13v2.01227,271,693 - 227,288,198 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001019397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001019398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001019399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001649 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35511 (Get FASTA)   NCBI Sequence Viewer  
  AAA35512 (Get FASTA)   NCBI Sequence Viewer  
  AAA35552 (Get FASTA)   NCBI Sequence Viewer  
  AAC09356 (Get FASTA)   NCBI Sequence Viewer  
  AAC28623 (Get FASTA)   NCBI Sequence Viewer  
  AAH09247 (Get FASTA)   NCBI Sequence Viewer  
  AAH10429 (Get FASTA)   NCBI Sequence Viewer  
  AAH11358 (Get FASTA)   NCBI Sequence Viewer  
  AAM12595 (Get FASTA)   NCBI Sequence Viewer  
  AAP36057 (Get FASTA)   NCBI Sequence Viewer  
  BAG57030 (Get FASTA)   NCBI Sequence Viewer  
  BAG58790 (Get FASTA)   NCBI Sequence Viewer  
  BAG60132 (Get FASTA)   NCBI Sequence Viewer  
  EAW69831 (Get FASTA)   NCBI Sequence Viewer  
  EAW69832 (Get FASTA)   NCBI Sequence Viewer  
  EAW69833 (Get FASTA)   NCBI Sequence Viewer  
  EAW69834 (Get FASTA)   NCBI Sequence Viewer  
  EAW69835 (Get FASTA)   NCBI Sequence Viewer  
  EAW69836 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000272102
  ENSP00000272102.5
  ENSP00000514653
  ENSP00000514653.1
  ENSP00000514654.1
  ENSP00000514655.1
  ENSP00000514656.1
  ENSP00000514657
  ENSP00000514657.1
  ENSP00000514658
  ENSP00000514658.1
  ENSP00000514659.1
  ENSP00000514660.1
  ENSP00000514661.1
  ENSP00000514662.1
GenBank Protein P84077 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001019397   ⟸   NM_001024226
- UniProtKB: P10947 (UniProtKB/Swiss-Prot),   P32889 (UniProtKB/Swiss-Prot),   P84077 (UniProtKB/Swiss-Prot),   B4DEB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001649   ⟸   NM_001658
- UniProtKB: P10947 (UniProtKB/Swiss-Prot),   P32889 (UniProtKB/Swiss-Prot),   P84077 (UniProtKB/Swiss-Prot),   B4DEB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001019399   ⟸   NM_001024228
- UniProtKB: P10947 (UniProtKB/Swiss-Prot),   P32889 (UniProtKB/Swiss-Prot),   P84077 (UniProtKB/Swiss-Prot),   B4DEB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001019398   ⟸   NM_001024227
- UniProtKB: P10947 (UniProtKB/Swiss-Prot),   P32889 (UniProtKB/Swiss-Prot),   P84077 (UniProtKB/Swiss-Prot),   B4DEB9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000440005   ⟸   ENST00000541182
Ensembl Acc Id: ENSP00000272102   ⟸   ENST00000272102
Ensembl Acc Id: ENSP00000442980   ⟸   ENST00000540651

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P84077-F1-model_v2 AlphaFold P84077 1-181 view protein structure

Promoters
RGD ID:6784617
Promoter ID:HG_KWN:7679
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001024226,   NM_001024228,   NM_001658,   OTTHUMT00000092126,   OTTHUMT00000092127,   OTTHUMT00000092129,   OTTHUMT00000092131,   OTTHUMT00000092132,   OTTHUMT00000092134,   OTTHUMT00000092137,   UC001HRT.1,   UC009XEV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,336,126 - 226,337,837 (+)MPROMDB
RGD ID:6853614
Promoter ID:EP39001
Type:initiation region
Name:HS_ARF1
Description:ADP-ribosylation factor 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:housekeeping gene
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder; NEDO full length human cDNA sequencing project.; Oligo-capping; Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,337,046 - 226,337,106EPD
RGD ID:6784619
Promoter ID:HG_KWN:7680
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000092135
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,342,321 - 226,342,821 (+)MPROMDB
RGD ID:6784618
Promoter ID:HG_KWN:7681
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000092136
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,343,896 - 226,345,267 (+)MPROMDB
RGD ID:6784620
Promoter ID:HG_KWN:7682
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001HRW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,350,416 - 226,351,847 (+)MPROMDB
RGD ID:6859174
Promoter ID:EPDNEW_H2752
Type:initiation region
Name:ARF1_1
Description:ADP ribosylation factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2753  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,082,722 - 228,082,782EPDNEW
RGD ID:6859176
Promoter ID:EPDNEW_H2753
Type:initiation region
Name:ARF1_2
Description:ADP ribosylation factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,083,137 - 228,083,197EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:652 AgrOrtholog
COSMIC ARF1 COSMIC
Ensembl Genes ENSG00000143761 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000272102 ENTREZGENE
  ENST00000272102.10 UniProtKB/Swiss-Prot
  ENST00000469235 ENTREZGENE
  ENST00000469235.5 UniProtKB/TrEMBL
  ENST00000470558.5 UniProtKB/Swiss-Prot
  ENST00000473546.1 UniProtKB/TrEMBL
  ENST00000473949.5 UniProtKB/TrEMBL
  ENST00000477451.5 UniProtKB/TrEMBL
  ENST00000478336 ENTREZGENE
  ENST00000478336.5 UniProtKB/Swiss-Prot
  ENST00000478424 ENTREZGENE
  ENST00000478424.5 UniProtKB/Swiss-Prot
  ENST00000482962.5 UniProtKB/TrEMBL
  ENST00000490705.2 UniProtKB/TrEMBL
  ENST00000497165.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143761 GTEx
HGNC ID HGNC:652 ENTREZGENE
Human Proteome Map ARF1 Human Proteome Map
InterPro Arf1_5_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_ARF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_ARF/SAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:375 UniProtKB/Swiss-Prot
NCBI Gene 375 ENTREZGENE
OMIM 103180 OMIM
PANTHER ADP-RIBOSYLATION FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11711 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Arf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24934 PharmGKB
PRINTS SAR1GTPBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ARF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TNZ0_HUMAN UniProtKB/TrEMBL
  A0A8V8TNZ5_HUMAN UniProtKB/TrEMBL
  A0A8V8TP92_HUMAN UniProtKB/TrEMBL
  A0A8V8TP99_HUMAN UniProtKB/TrEMBL
  A0A8V8TPG9_HUMAN UniProtKB/TrEMBL
  A0A8V8TQC0_HUMAN UniProtKB/TrEMBL
  A0A8V8TQP8_HUMAN UniProtKB/TrEMBL
  ARF1_HUMAN UniProtKB/Swiss-Prot
  B4DEB9 ENTREZGENE, UniProtKB/TrEMBL
  P10947 ENTREZGENE
  P32889 ENTREZGENE
  P84077 ENTREZGENE
UniProt Secondary P10947 UniProtKB/Swiss-Prot
  P32889 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ARF1  ADP ribosylation factor 1  ARF1  ADP-ribosylation factor 1  Symbol and/or name change 5135510 APPROVED